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Heme Trafficking and the Nervous System

Dott.ssa Deborah Chiabrando (Principal Investigator)



Heme is a crucial molecule regulating different biological processes, ranging from oxygen sensing to the regulation of cell metabolism and signaling pathways. Little is still known about the pathophysiology of heme in the nervous system. Our lab is interested in understanding the role of heme trafficking in the nervous system and in neurological diseases due to the alteration of heme transport. Our major research interests include:

Heme trafficking during the development of the nervous system.

Emerging data showed a crucial role for heme during neurodevelopment. Our aim is to define the heme-dependent molecular mechanisms regulating the proliferation, survival, and differentiation of neural progenitors and how alterations of these mechanisms lead to congenital hydrocephalus.

Link: NIH-funded project

FLVCR1-related diseases

Feline Leukemia Virus subgroup C Receptor 1 (FLVCR1) is a ubiquitously expressed heme exporter, involved in the regulation of labile heme (a pool of free-heme that plays regulatory functions). FLVCR1 mutations cause Posterior Column Ataxia and Retinitis Pigmentosa (PCARP), non-syndromic retinitis pigmentosa (RP) and Hereditary Sensory and Autonomic Neuropathy (HSAN). These disorders are characterized by the progressive degeneration of photoreceptors and/or sensory neurons, resulting in progressive vision loss, sensory ataxia and/or pain insensitivity. The reason why photoreceptors and sensory neurons are particularly sensitive to the disruption of heme export is still unknown. Our aim is to unravel the underlying molecular mechanisms.

Mitochondrial heme efflux

Heme is endogenously synthesized by all the cells of our body but the mechanisms that allow heme mobilization from mitochondria towards the sites of its utilization are still poorly understood. We previously identified a mitochondrial isoform of the heme exporter FLVCR1 (FLVCR1b) that is involved in the export of heme out of mitochondria. Our aim is to get further insights into the mechanism of heme efflux from mitochondria in different physio-pathological conditions.


  • Dott.ssa Deborah Chiabrando (PI)
  • Francesca Bertino, dottoranda
  • Elisa Quarta, dottoranda
  • Eleonora Grasso, borsista
  • Livia Metani, tesista

  • Telethon Exploratory Projects (2012): "Investigation of the molecular basis of Posterior Column Ataxia and Retinitis Pigmentosa"
  • National Institutes of Health project (2021-2026): "Defective heme transport in the development of congenital hydrocephalus"




Ultimo aggiornamento: 07/06/2022 14:22